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1.
J Inherit Metab Dis ; 2024 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-38973597

RESUMO

The protein encoded by COQ7 is required for CoQ10 synthesis in humans, hydroxylating 3-demethoxyubiquinol (DMQ10) in the second to last steps of the pathway. COQ7 mutations lead to a primary CoQ10 deficiency syndrome associated with a pleiotropic neurological disorder. This study shows the clinical, physiological, and molecular characterization of four new cases of CoQ10 primary deficiency caused by five mutations in COQ7, three of which have not yet been described, inducing mitochondrial dysfunction in all patients. However, the specific combination of the identified variants in each patient generated precise pathophysiological and molecular alterations in fibroblasts, which would explain the differential in vitro response to supplementation therapy. Our results suggest that COQ7 dysfunction could be caused by specific structural changes that affect the interaction with COQ9 required for the DMQ10 presentation to COQ7, the substrate access to the active site, and the maintenance of the active site structure. Remarkably, patients' fibroblasts share transcriptional remodeling, supporting a modification of energy metabolism towards glycolysis, which could be an adaptive mechanism against CoQ10 deficiency. However, transcriptional analysis of mitochondria-associated pathways showed distinct and dramatic differences between patient fibroblasts, which correlated with the extent of pathophysiological and neurological alterations observed in the probands. Overall, this study suggests that the combination of precise genetic diagnostics and the availability of new structural models of human proteins could help explain the origin of phenotypic pleiotropy observed in some genetic diseases and the different responses to available therapies.

2.
Eur J Hum Genet ; 2024 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-38702428

RESUMO

COQ7 pathogenetic variants cause primary CoQ10 deficiency and a clinical phenotype of encephalopathy, peripheral neuropathy, or multisystemic disorder. Early diagnosis is essential for promptly starting CoQ10 supplementation. Here, we report novel compound heterozygous variants in the COQ7 gene responsible for a prenatal onset (20 weeks of gestation) of hypertrophic cardiomyopathy and intestinal dysmotility in a Bangladesh consanguineous family with two affected siblings. The main clinical findings were dysmorphisms, recurrent intestinal occlusions that required ileostomy, left ventricular non-compaction cardiomyopathy, ascending aorta dilation, arterial hypertension, renal dysfunction, diffuse skin desquamation, axial hypotonia, neurodevelopmental delay, and growth retardation. Exome sequencing revealed compound heterozygous rare variants in the COQ7 gene, c.613_617delGCCGGinsCAT (p.Ala205HisfsTer48) and c.403A>G (p.Met135Val). In silico analysis and functional in vitro studies confirmed the pathogenicity of the variants responsible for abolished activities of complexes I + III and II + III in muscle homogenate, severe decrease of CoQ10 levels, and reduced basal and maximal respiration in patients' fibroblasts. The first proband deceased at 14 months of age, whereas supplementation with a high dose of CoQ10 (30 mg/kg/day) since the first days of life modified the clinical course in the second child, showing a recovery of milestones acquirement at the last follow-up (18 months of age). Our study expands the clinical spectrum of primary CoQ10 deficiency due to COQ7 gene defects and highlights the essential role of multidisciplinary and combined approaches for a timely diagnosis.

3.
Eur J Hum Genet ; 32(4): 426-434, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38316953

RESUMO

GEMIN5 exerts key biological functions regulating pre-mRNAs intron removal to generate mature mRNAs. A series of patients were reported harboring mutations in GEMIN5. No treatments are currently available for this disease. We treated two of these patients with oral Coenzyme Q10 (CoQ10), which resulted in neurological improvements, although MRI abnormalities remained. Whole Exome Sequencing demonstrated compound heterozygosity at the GEMIN5 gene in both cases: Case one: p.Lys742* and p.Arg1016Cys; Case two: p.Arg1016Cys and p.Ser411Hisfs*6. Functional studies in fibroblasts revealed a decrease in CoQ10 biosynthesis compared to controls. Supplementation with exogenous CoQ10 restored it to control intracellular CoQ10 levels. Mitochondrial function was compromised, as indicated by the decrease in oxygen consumption, restored by CoQ10 supplementation. Transcriptomic analysis of GEMIN5 patients compared with controls showed general repression of genes involved in CoQ10 biosynthesis. In the rigor mortis defective flies, CoQ10 levels were decreased, and CoQ10 supplementation led to an improvement in the adult climbing assay performance, a reduction in the number of motionless flies, and partial restoration of survival. Overall, we report the association between GEMIN5 dysfunction and CoQ10 deficiency for the first time. This association opens the possibility of oral CoQ10 therapy, which is safe and has no observed side effects after long-term therapy.


Assuntos
Ataxia , Doenças Mitocondriais , Debilidade Muscular , Ubiquinona , Ubiquinona/deficiência , Adulto , Humanos , Ubiquinona/genética , Ubiquinona/uso terapêutico , Ubiquinona/metabolismo , Seguimentos , Doenças Mitocondriais/tratamento farmacológico , Doenças Mitocondriais/genética , Mutação , Proteínas do Complexo SMN/genética
4.
Mol Cell ; 84(5): 981-989.e7, 2024 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-38295803

RESUMO

Coenzyme Q (CoQ) is a redox lipid that fulfills critical functions in cellular bioenergetics and homeostasis. CoQ is synthesized by a multi-step pathway that involves several COQ proteins. Two steps of the eukaryotic pathway, the decarboxylation and hydroxylation of position C1, have remained uncharacterized. Here, we provide evidence that these two reactions occur in a single oxidative decarboxylation step catalyzed by COQ4. We demonstrate that COQ4 complements an Escherichia coli strain deficient for C1 decarboxylation and hydroxylation and that COQ4 displays oxidative decarboxylation activity in the non-CoQ producer Corynebacterium glutamicum. Overall, our results substantiate that COQ4 contributes to CoQ biosynthesis, not only via its previously proposed structural role but also via the oxidative decarboxylation of CoQ precursors. These findings fill a major gap in the knowledge of eukaryotic CoQ biosynthesis and shed light on the pathophysiology of human primary CoQ deficiency due to COQ4 mutations.


Assuntos
Células Eucarióticas , Ubiquinona , Humanos , Descarboxilação , Células Eucarióticas/metabolismo , Oxirredução , Escherichia coli/genética , Escherichia coli/metabolismo , Estresse Oxidativo , Proteínas Mitocondriais/metabolismo
5.
Children (Basel) ; 10(11)2023 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-38002853

RESUMO

The objectives of this research were to establish the differences between Spain and Italy regarding the presence of bullying in primary and secondary schools, as well as to determine whether there are differences between experiencing or perpetrating bullying and gender and age in the practice of school bullying. To assess the EBIPQ scores in terms of country and gender, the chi-squared test was used, and ANOVA was applied for age. A total of 1536 students from primary and secondary schools in Spain and Italy participated in the study. Their ages ranged from 10 to 19 years (mean = 13.01, standard deviation = 2.19). The results revealed statistically significant differences in terms of bullying categories concerning the country of origin and gender, with a higher number of Italian participants in the role of "no victim aggress" and Spanish participants in the roles of "victim" and "victim and aggress". Additionally, there were more boys in the role of "victim and aggress" and girls in the role of "no victim aggress". Regarding age, statistically significant differences were found, with older students taking on the role of "aggress" on average, while younger students assumed the role of "victim".

6.
bioRxiv ; 2023 Nov 13.
Artigo em Inglês | MEDLINE | ID: mdl-38014142

RESUMO

Coenzyme Q (CoQ) is a redox lipid that fulfills critical functions in cellular bioenergetics and homeostasis. CoQ is synthesized by a multi-step pathway that involves several COQ proteins. Two steps of the eukaryotic pathway, the decarboxylation and hydroxylation of position C1, have remained uncharacterized. Here, we provide evidence that these two reactions occur in a single oxidative decarboxylation step catalyzed by COQ4. We demonstrate that COQ4 complements an Escherichia coli strain deficient for C1 decarboxylation and hydroxylation and that COQ4 displays oxidative decarboxylation activity in the non-CoQ producer Corynebacterium glutamicum. Overall, our results substantiate that COQ4 contributes to CoQ biosynthesis, not only via its previously proposed structural role, but also via oxidative decarboxylation of CoQ precursors. These findings fill a major gap in the knowledge of eukaryotic CoQ biosynthesis, and shed new light on the pathophysiology of human primary CoQ deficiency due to COQ4 mutations.

7.
Children (Basel) ; 10(6)2023 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-37371161

RESUMO

Academic performance (AP) is a topic of particular interest in the academic context. Attributions for academic success (AAS) have been shown to have a significant impact on AP, and more specifically internal controllable attributions (ICA) are closely linked to academic success. Similarly, positive emotions (PE) have a significant influence on AP and may in turn be influenced by bullying. This study examines the connections between ICA of academic success and AP mediated through PE in late primary and early secondary school students and analyzes the relationships between PE and bullying categories. Students (N = 562, 49.46% female, Mage = 11.6 SD = 1.2) reported on their perceptions of ICA and PE in relation to exams and their relationship with bullying through validated questionnaires. The AP was obtained as the average mark of all subjects in the immediately preceding assessment. First, a multiple linear regression analysis considering ICA and PE as predictor variables was carried out, which showed a significantly positive link between ICA and PE, between ICA and AP, and between PE and AP. Subsequently, using the SPSS macro PROCESS, a simple mediation model was implemented to quantify the effect of ICA on AP through PE in exams, and finally an ANOVA between the categories of bullying and PE was performed. The results showed a significant indirect relationship with a positive predictive relationship for AP. The model shows that PE proves to be a significant mediator between ICA and AP, and it is shown that students disengaged from bullying score higher in PE.

8.
Nat Commun ; 14(1): 2652, 2023 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-37156776

RESUMO

Despite a century of research, our understanding of cement dissolution and precipitation processes at early ages is very limited. This is due to the lack of methods that can image these processes with enough spatial resolution, contrast and field of view. Here, we adapt near-field ptychographic nanotomography to in situ visualise the hydration of commercial Portland cement in a record-thick capillary. At 19 h, porous C-S-H gel shell, thickness of 500 nm, covers every alite grain enclosing a water gap. The spatial dissolution rate of small alite grains in the acceleration period, ∼100 nm/h, is approximately four times faster than that of large alite grains in the deceleration stage, ∼25 nm/h. Etch-pit development has also been mapped out. This work is complemented by laboratory and synchrotron microtomographies, allowing to measure the particle size distributions with time. 4D nanoimaging will allow mechanistically study dissolution-precipitation processes including the roles of accelerators and superplasticizers.

9.
Materials (Basel) ; 16(4)2023 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-36837090

RESUMO

Reducing cement CO2 footprint is a societal need. This is being achieved mainly by replacing an increasing amount of Portland clinker by supplementary cementitious materials. However, this comes at a price: lower mechanical strengths at early ages due to slow pozzolanic reaction(s). This is being addressed by using accelerator admixtures. In this context, calcium silicate hydrate nucleation seeding seems to have a promising future, as it can accelerate cement and pozzolanic reactions at early ages, optimising their microstructures, without compromising late strength and durability performances. In fact, these features could even be improved. Moreover, other uses are low temperature concreting, precasting, shotconcrete, etc. Here, we focus on reviewing recent reports on calcium silicate hydrate seeding using commercially available admixtures. Current knowledge on the consequences of nucleation seeding on hydration reactions and on early and late mechanical strengths is discussed. It is noted that other features, in addition to the classic alite hydration acceleration, are covered here including the enhanced ettringite precipitation and the very efficient porosity refinement, which take place in the seeded binders. Finally, because the seeded binders seem to be denser, durability properties could also be enhanced although this remains to be properly established.

10.
Artigo em Inglês | MEDLINE | ID: mdl-36767602

RESUMO

This research aimed to validate the Academic Success and Failure Attribution Questionnaire (ASFAQ) and analyze gender and age differences in middle and high school students in Italy. Methods: From the ASFAQ questionnaire validated with Spanish students, an analysis of the psychometric characteristics of the scale was carried out using a Confirmatory Factor Analysis (CFA). To compare ASFAQ scores by gender and school year, the independent samples parametric t-test and Pearson's coincidence test were used. (3) Results: in total, 976 students participated in the research, of which 515 were middle school students and 461 were high school students. The results showed a validity of the ASFAQ for Italian students, in addition to statistically significant differences between males and females, and school year. (4) Conclusions: The ASFAQ is reliable and valid to assess the attributional styles of academic success and failure in an Italian context. There are significant differences in sex and school year, and a consequence with age.


Assuntos
Sucesso Acadêmico , Estudantes , Masculino , Feminino , Humanos , Psicometria , Inquéritos e Questionários , Percepção Social , Itália
11.
Arch Dermatol Res ; 315(6): 1527-1532, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36656384

RESUMO

PURPOSE: Vulvar lichen sclerosus (LS) is a chronic, progressive, autoimmune dermatologic condition that causes cutaneous changes accompanied by pruritus and pain. There remains a small population with vulvar LS refractory to topical corticosteroids. Injection of platelet-rich plasma (PRP) has been reported to have positive effects on tissue repair. The aim of this pilot study was to evaluate changes in symptom scores during and after PRP vulvar infiltration. METHODS: Three PRP infiltrations were administered to 28 female postmenopausal patients with biopsy-proved LS with unsatisfactory response to steroid therapy. Change in score according to the Clinical Scoring System for Vulvar Lichen Sclerosus (CSS) was measured on six occasions over the course of a year. We used growth curve modeling to measure change over the period of the study. RESULTS: Women in our study experienced a statistically significant improvement in auto-assessed symptoms of vulvar lichen sclerosus, and this improvement appears to be maintained throughout the monitoring year. CONCLUSION: Platelet-rich plasma may have a role in symptom relief in certain cases of patients with LS that do not respond to first-line therapy.


Assuntos
Plasma Rico em Plaquetas , Líquen Escleroso Vulvar , Feminino , Humanos , Líquen Escleroso Vulvar/tratamento farmacológico , Projetos Piloto , Glucocorticoides , Administração Cutânea
12.
Artigo em Inglês | MEDLINE | ID: mdl-35954658

RESUMO

School bullying is a phenomenon of unjustified aggression in the school environment that is widespread throughout the world and with serious consequences for both the bully and the bullied. The objectives of this research were to analyze the differences between the different bullying categories by gender and academic year in primary and secondary education students, as well as their relationship with academic performance. To categorize students according to their bullying experiences, the European Bullying Intervention Project (EBIPQ) Questionnaire was used. The Chi-square test was used to compare the scores obtained by the students in the EBIPQ based on gender and academic year, and the one-way ANOVA test was used to analyze its relationship with academic performance. Research participants were 562 students from the 5th (n = 228) and 6th (n = 186) primary school years and the 1st (n = 134) and 2nd (n = 94) secondary school years. They were males (50.5%) and females (49.5%) ranging in ages from 10 to 15 years old (mean = 11.66, standard deviation = 1.206). The results showed statistically significant differences in gender and academic year, indicating a greater number of boys in the role of the bully/victim and girls in that of non-bully/non-victim. The most aggressive students were in the 2nd year of ESO (12-13 years old). Regarding academic performance, statistically significant differences were obtained that confirm the hypothesis that performance or average grade varies according to the category of bullying in which students find themselves. The academic performance of the non-bully/non-victim and those in the victim category was found to be higher than that of bullies and bully/victim students.


Assuntos
Desempenho Acadêmico , Bullying , Vítimas de Crime , Adolescente , Criança , Feminino , Humanos , Masculino , Instituições Acadêmicas , Estudantes
13.
Artigo em Inglês | MEDLINE | ID: mdl-35805490

RESUMO

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by the presence of difficulties in communication and social interaction, often associated with deficits in executive functions (EF). The EF correct development is related to a more effective functioning in all its daily activities, while being associated with more efficient social relations. The objective of this research is to analyze the level of development of EF in children and adolescents with ASD in school and at home. This is a descriptive, cross-sectional, and multicenter study with 102 participants selected by non-probabilistic sampling, 32 parents of children with ASD, and 70 professionals in the field of education of students with ASD. The study confirms that although children and adolescents with ASD have problems in executive functioning, the perception of informants, parents, and education professionals is similar but not the same in the different contexts: school and home.


Assuntos
Transtorno do Espectro Autista , Função Executiva , Adolescente , Criança , Comunicação , Estudos Transversais , Humanos , Instituições Acadêmicas
14.
Artigo em Inglês | MEDLINE | ID: mdl-35682352

RESUMO

The objective of this research was to perform a construct validity, and a psychometric analysis of the Exams-related Emotions Scale (EES), analyze the differences in their scores regarding gender and academic year in primary and secondary education student, as well as study the relationship between emotions and academic performance. During the construction and analysis of the psychometric characteristics of the scale, an Exploratory Factor Analysis (EFA) and a Confirmatory Factor Analysis (CFA) were performed. To test EES scores based on gender and school year, the T-Student test for independent samples and ANOVA were used, respectively. To verify the relationship between the scores of the different types of emotions and academic performance, the Pearson correlation test was performed. A total of 562 students belonging to the 5th (n = 228) and 6th (n = 186) primary school year and the 1st (n = 134) and 2nd (n = 94) secondary school year participated in the research. Age between 10 and 15 years old (mean = 11.66, standard deviation = 1.206) both males (50.5%) and females (49.5%). The results offered support for the three-factor structure. The analysis of invariance with respect to gender showed that the factor structure was invariant. Boys scored higher on the positive emotions factor and lower scores on anxiety than girls. Regarding school year, negative emotions and anxiety related to exams increase in the secondary courses compared to Primary while for positive emotions it is primary school students who obtain higher scores. The correlation coefficient between negative emotions (as well as anxiety) and school performance is negative whereas the correlation coefficient between positive emotions and academic performance is positive. EES scale is an instrument with scientific rigor and with adequate reliability and validity to be able to know the emotions that primary and secondary school students suffer when they are subjected to evaluation processes in the academic context.


Assuntos
Emoções , Estudantes , Adolescente , Criança , Feminino , Humanos , Masculino , Psicometria/métodos , Reprodutibilidade dos Testes , Instituições Acadêmicas , Estudantes/psicologia , Inquéritos e Questionários
15.
Materials (Basel) ; 15(10)2022 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-35629580

RESUMO

The acceleration of very early age cement hydration by C-S-H seeding is getting attention from scholars and field applications because the enhanced early age features do not compromise later age performances. This acceleration could be beneficial for several low-CO2 cements as a general drawback is usually the low very early age mechanical strengths. However, the mechanistic understanding of this acceleration in commercial cements is not complete. Reported here is a contribution to this understanding from the study of the effects of C-S-H gel seeding in one Portland cement and two belite cements at two widely studied water-cement ratios, 0.50 and 0.40. Two commercially available C-S-H nano-seed-based admixtures, i.e., Master X-Seed 130 and Master X-Seed STE-53, were investigated. A multi-technique approach was adopted by employing calorimetry, thermal analysis, powder diffraction (data analysed by the Rietveld method), mercury intrusion porosimetry, and mechanical strength determination. For instance, the compressive strength at 1 day for the PC (w/c = 0.50) sample increased from 15 MPa for the unseeded mortar to 24 and 22 MPs for the mortars seeded with the XS130 and STE53, respectively. The evolution of the amorphous contents was determined by adding an internal standard before recording the powder patterns. In summary, alite and belite phase hydrations, from the crystalline phase content evolutions, are not significantly accelerated by C-S-H seedings at the studied ages of 1 and 28 d for these cements. Conversely, the hydration rates of tetracalcium alumino-ferrate and tricalcium aluminate were significantly enhanced. It is noted that the degrees of reaction of C4AF for the PC paste (w/c = 0.40) were 10, 30, and 40% at 1, 7, and 28 days. After C-S-H seeding, the values increased to 20, 45, and 60%, respectively. This resulted in larger ettringite contents at very early ages but not at 28 days. At 28 days of hydration, larger amounts of carbonate-containing AFm-type phases were determined. Finally, and importantly, the admixtures yielded larger amounts of amorphous components in the pastes at later hydration ages. This is justified, in part, by the higher content of amorphous iron siliceous hydrogarnet from the enhanced C4AF reactivity.

16.
Artigo em Inglês | MEDLINE | ID: mdl-35627587

RESUMO

The way in which students attribute causes to their successes and failures in school has important implications for their development. The objectives of our research were to validate the Academic Success and Failure Attribution Questionnaire (ASFAQ) and to analyze the gender and grade differences in the ASFAQ data for primary and secondary school students in Spain. For the construction and analysis of the psychometric characteristics of the scale, an exploratory factor analysis (EFA) and a confirmatory factor analysis (CFA) were performed. To compare the ASFAQ scores based on gender and school year, a parametric t-test for independent samples and a one-way analysis of variance (ANOVA) was used. A total of 562 students in the fifth (n = 228) and sixth year (n = 186) of primary studies and the first (n = 134) and second year (n = 94) of secondary studies participated in the research. The results showed the adequate factorial structure, internal consistency, and validity of the ASFAQ, in addition to statistically significant differences by gender and school year. This research provides scientific evidence about the psychometric properties of the ASFAQ to assess and understand attributional style in the educational context, as well as current and consistent empirical evidence related to gender and grade differences in the attributional patterns of academic success and failure for primary and secondary school students.


Assuntos
Logro , Instituições Acadêmicas , Humanos , Psicometria , Estudantes , Inquéritos e Questionários
17.
J Vis Exp ; (180)2022 02 10.
Artigo em Inglês | MEDLINE | ID: mdl-35225269

RESUMO

Most of the cell's energy is obtained through the degradation of glucose, fatty acids, and amino acids by different pathways that converge on the mitochondrial oxidative phosphorylation (OXPHOS) system, which is regulated in response to cellular demands. The lipid molecule Coenzyme Q (CoQ) is essential in this process by transferring electrons to complex III in the electron transport chain (ETC) through constant oxidation/reduction cycles. Mitochondria status and, ultimately, cellular health can be assessed by measuring ETC oxygen consumption using respirometric assays. These studies are typically performed in established or primary cell lines that have been cultured for several days. In both cases, the respiration parameters obtained may have deviated from normal physiological conditions in any given organ or tissue. Additionally, the intrinsic characteristics of cultured single fibers isolated from skeletal muscle impede this type of analysis. This paper presents an updated and detailed protocol for the analysis of respiration in freshly isolated mitochondria from mouse skeletal muscle. We also provide solutions to potential problems that could arise at any step of the process. The method presented here could be applied to compare oxygen consumption rates in diverse transgenic mouse models and study the mitochondrial response to drug treatments or other factors such as aging or sex. This is a feasible method to respond to crucial questions about mitochondrial bioenergetics metabolism and regulation.


Assuntos
Mitocôndrias , Fosforilação Oxidativa , Animais , Metabolismo Energético , Camundongos , Mitocôndrias/metabolismo , Mitocôndrias Musculares/química , Músculo Esquelético , Consumo de Oxigênio/fisiologia
18.
Int J Vitam Nutr Res ; 92(3-4): 192-203, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32639220

RESUMO

Ubiquinol, the reduced form of Coenzyme Q10 (CoQ10), is a key factor in bioenergetics and antioxidant protection. During competition, professional soccer players suffer from considerable physical stress causing high risk of muscle damage. For athletes, supplementation with several antioxidants, including CoQ10, is widely recommended to avoid oxidative stress and muscle damage. We performed an observational study of plasma parameters associated with CoQ10 levels in professional soccer players of the Spanish First League team Athletic Club de Bilbao over two consecutive seasons (n = 24-25) in order determine their relationship with damage, stress and performance during competition. We analyzed three different moments of the competition: preterm, initial phase and mid phase. Metabolites and factors related with stress (testosterone/cortisol) and muscle damage (creatine kinase) were determined. Physical activity during matches was analyzed over the 2015/16 season in those players participating in complete matches. In the mid phase of competition, CoQ10 levels were higher in 2015/16 (906.8 ± 307.9 vs. 584.3 ± 196.3 pmol/mL, p = 0.0006) High levels of CoQ10 in the hardest phase of competition were associated with a reduction in the levels of the muscle-damage marker creatine kinase (Pearsons' correlation coefficient (r) = - 0.460, p = 0.00168) and a trend for the stress marker cortisol (r = -0.252, p = 0.150). Plasma ubiquinol was also associated with better kidney function (r = -0.287, p = 0.0443 for uric acid). Furthermore, high CoQ10 levels were associated with higher muscle performance during matches. Our results suggest that high levels of plasma CoQ10 can prevent muscle damage, improve kidney function and are associated with higher performance in professional soccer players during competition.


Assuntos
Futebol , Ubiquinona , Antioxidantes , Atletas , Biomarcadores , Creatina Quinase , Humanos , Hidrocortisona , Estresse Oxidativo , Futebol/fisiologia , Ubiquinona/análogos & derivados , Ubiquinona/sangue
19.
Reprod Biomed Online ; 44(1): 127-130, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34654615

RESUMO

RESEARCH QUESTION: Is there an association between SARS-CoV-2 infection and first-trimester miscarriage? DESIGN: This multicentre prospective study included a cohort of women with first-trimester miscarriages registered consecutively by seven Spanish hospitals where universal PCR screening for SARS-CoV-2 infection was implemented with both miscarriages and deliveries. The incidence of SARS-CoV-2 infection among women with first-trimester miscarriages was compared with the rate registered in women on admission to the delivery ward within the same time frame using a mixed-effects Poisson regression analysis, considering 'hospital' as random effect. The characteristics of SARS-CoV-2 positive and negative patients who miscarried were compared through two-sided univariable analyses. RESULTS: A total of 301 miscarriages were registered, 11 (3.7%) to SARS-CoV-2 infected and 290 to non-infected women. In the same time frame as the miscarriages, 1936 deliveries were registered, 44 [2.3%] of them were SARS-CoV-2 infected. No differences in terms of SARS-CoV-2 infection incidence were observed between infected miscarriages and infected deliveries (P = 0.233). Regarding the differences observed between miscarriages in SARS-CoV-2 positive and negative women, more inevitable miscarriages occurred in the group of infected women (36.4% versus 16.5% in non-infected women; P = 0.004), and there was greater surgical management of miscarriages (27.3% versus 8.2% in non-infected women; P = 0.036), probably in line with the greater number of inevitable miscarriages observed in this group. CONCLUSIONS: No association between SARS-CoV-2 infection and risk of first-trimester miscarriage was observed; however, the type of miscarriage seems to differ between SARS-CoV-2 positive and negative women, with inevitable miscarriage being more frequent among infected women.


Assuntos
Aborto Espontâneo/virologia , COVID-19/complicações , Adolescente , Adulto , COVID-19/epidemiologia , Feminino , Humanos , Incidência , Pessoa de Meia-Idade , Gravidez , Primeiro Trimestre da Gravidez , Estudos Prospectivos , SARS-CoV-2 , Espanha/epidemiologia , Adulto Jovem
20.
Rev. senol. patol. mamar. (Ed. impr.) ; 34(4): 193-199, Oct.-Dic. 2021. tab
Artigo em Espanhol | IBECS | ID: ibc-230538

RESUMO

ObjetivoEl examen de los costes asociados al diagnóstico y tratamiento quirúrgico en un grupo de pacientes con cáncer de mama.MétodoAnálisis de costes referido a la valoración clínica preoperatoria, tipo de cirugía y hospitalización en una cohorte de 224 pacientes con cáncer de mama en estadios precoces, intervenidas desde junio-2012 a diciembre-2016.ResultadosLa cirugía conservadora en régimen de cirugía mayor ambulatoria versus hospitalización, aplicada a la tumorectomía con biopsia selectiva de ganglio centinela supuso un ahorro de 2.085 € por paciente, y total en nuestra serie de pacientes de 289.815 €. La aplicación del estudio ACOSOG (American College of Surgeons Oncology Group) a 18 pacientes con ganglio centinela positivo evitó la linfadenectomía axilar y redujo el coste en 37.530 €. La RMN preoperatoria en cáncer de mama aportó un beneficio en el tratamiento de 31 pacientes; una selección de pacientes más precisa habría supuesto un ahorro de 37.179 €. Las ampliaciones de márgenes quirúrgicos sin hallazgo de tumor residual determinaron un gasto de 11.592 €.Conclusiones-La cirugía conservadora de mama con biopsia selectiva de ganglio centinela en régimen de cirugía mayor ambulatoria supuso un ahorro importante de recursos sin comprometer el bienestar y pronóstico de las pacientes.-Los costes asociados a la realización de una RMN preoperatoria sin selección previa de pacientes y las reintervenciones de ampliación de márgenes determinaron un gasto evitable en buena parte de las pacientes.(AU)


ObjectiveThe aim of our study was to identify the costs associated with the diagnosis and surgical procedure in a cohort of patients with early breast cancer.MethodWe performed a costs study, referred to the preoperatory radiological-histological study, surgical procedure and inpatient/outpatient health service in a cohort of 224 patients diagnosed and operated on early-stage breast from June 2012 to December 2016.ResultsBreast conserving surgery in outpatient health service applied to lumpectomy with sentinel lymph node biopsy compared to carrying it out in the inpatient setting, contributed to a saving of 2085€ per patient, and total of 289,815€. Following the ACOSOG (American College of Surgeons Oncology Group) trial in 18 patients with tumor-involved sentinel node, no further axillary specific treatment (completion of lymphadenectomy) was made, allowing a saving of 37,530€. In most patients our study have not showed benefit from diagnostic/preoperative breast MRI, leading to an over cost of 37,179€. The surgical rescission without showing the presence of residual tumor burden, led to an additional cost of 11,592€.Conclusions-Breast conserving surgery with sentinel lymph node biopsy in outpatient health service supposed an important economical saving of resources, without compromising the well-being and prognosis of our patients.-The diagnostic/preoperative MRI in all the patients and the surgical rescissions led to an over cost that could be avoided in most of the cases.(AU)


Assuntos
Humanos , Feminino , Custos de Cuidados de Saúde , Neoplasias da Mama
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